A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588356



Internal ID6975772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:192496929..192505420hg38UCSC Ensembl
chr1:192466059..192474550hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg388492
hg198492
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10238058, essv10238057, essv10238055, essv10238056
SamplesHG03449, HG02546, NA19121, HG02406
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588356
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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